Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype


Kaba S. , Dogan M. , Bulan K., Demir N. , Uner A., Bulut M. D. , ...Daha Fazla

CLEFT PALATE-CRANIOFACIAL JOURNAL, cilt.53, ss.732-735, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 53 Konu: 6
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1597/15-032
  • Dergi Adı: CLEFT PALATE-CRANIOFACIAL JOURNAL
  • Sayfa Sayıları: ss.732-735

Özet

We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome. Clinical features of elevated follicle stimulating hormone and low estradiol levels in the case were diagnosed as BPES syndrome and were consistent with BPES type 2. To date, there are no cases of BPES with cleft palate and cardiomyopathy, suggesting that these novel findings can be part of this condition.